Homozygous CALR Mutation in Primary Myelofibrosis and Its Effect on Disease Phenotype: A Case Report and Review of the Literature
Somatic mutations in CALR gene have been reported in 60%–88% of patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF) who are negative for JAK2 and MPL mutations. Most of the CALR mutations analyzed to date are heterozygous mutations in exon 9 of the gene. Homozygosity in CALR...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2019-01-01
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| Series: | Case Reports in Hematology |
| Online Access: | http://dx.doi.org/10.1155/2019/1430170 |
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| author | Qurratulain Rizvi Uzma Zaidi Saba Shahid Shariq Ahmed Tahir Shamsi |
| author_facet | Qurratulain Rizvi Uzma Zaidi Saba Shahid Shariq Ahmed Tahir Shamsi |
| author_sort | Qurratulain Rizvi |
| collection | DOAJ |
| description | Somatic mutations in CALR gene have been reported in 60%–88% of patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF) who are negative for JAK2 and MPL mutations. Most of the CALR mutations analyzed to date are heterozygous mutations in exon 9 of the gene. Homozygosity in CALR gene is rarely reported, and its association with clinical behavior of disease and impact on outcome of patients is not studied so far. We herein report a case of intermediate-2 risk PMF (according to IPSS) diagnosed with homozygous mutation (c.1139delA p.E380fs∗50) in CALR gene having severe disease manifestations at presentation. |
| format | Article |
| id | doaj-art-bc5c7038d3cd4c018025ecbd0e3b0797 |
| institution | Kabale University |
| issn | 2090-6560 2090-6579 |
| language | English |
| publishDate | 2019-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Hematology |
| spelling | doaj-art-bc5c7038d3cd4c018025ecbd0e3b07972025-02-03T07:24:28ZengWileyCase Reports in Hematology2090-65602090-65792019-01-01201910.1155/2019/14301701430170Homozygous CALR Mutation in Primary Myelofibrosis and Its Effect on Disease Phenotype: A Case Report and Review of the LiteratureQurratulain Rizvi0Uzma Zaidi1Saba Shahid2Shariq Ahmed3Tahir Shamsi4Department of Clinical Haematology, National Institute of Blood Diseases & Bone Marrow Transplantation, P.O. Box-75300, Karachi, PakistanDepartment of Clinical Haematology, National Institute of Blood Diseases & Bone Marrow Transplantation, P.O. Box-75300, Karachi, PakistanDepartment of Genomics, National Institute of Blood Diseases & Bone Marrow Transplantation, P.O. Box-75300, Karachi, PakistanDepartment of Genomics, National Institute of Blood Diseases & Bone Marrow Transplantation, P.O. Box-75300, Karachi, PakistanDepartment of Clinical Haematology, National Institute of Blood Diseases & Bone Marrow Transplantation, P.O. Box-75300, Karachi, PakistanSomatic mutations in CALR gene have been reported in 60%–88% of patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF) who are negative for JAK2 and MPL mutations. Most of the CALR mutations analyzed to date are heterozygous mutations in exon 9 of the gene. Homozygosity in CALR gene is rarely reported, and its association with clinical behavior of disease and impact on outcome of patients is not studied so far. We herein report a case of intermediate-2 risk PMF (according to IPSS) diagnosed with homozygous mutation (c.1139delA p.E380fs∗50) in CALR gene having severe disease manifestations at presentation.http://dx.doi.org/10.1155/2019/1430170 |
| spellingShingle | Qurratulain Rizvi Uzma Zaidi Saba Shahid Shariq Ahmed Tahir Shamsi Homozygous CALR Mutation in Primary Myelofibrosis and Its Effect on Disease Phenotype: A Case Report and Review of the Literature Case Reports in Hematology |
| title | Homozygous CALR Mutation in Primary Myelofibrosis and Its Effect on Disease Phenotype: A Case Report and Review of the Literature |
| title_full | Homozygous CALR Mutation in Primary Myelofibrosis and Its Effect on Disease Phenotype: A Case Report and Review of the Literature |
| title_fullStr | Homozygous CALR Mutation in Primary Myelofibrosis and Its Effect on Disease Phenotype: A Case Report and Review of the Literature |
| title_full_unstemmed | Homozygous CALR Mutation in Primary Myelofibrosis and Its Effect on Disease Phenotype: A Case Report and Review of the Literature |
| title_short | Homozygous CALR Mutation in Primary Myelofibrosis and Its Effect on Disease Phenotype: A Case Report and Review of the Literature |
| title_sort | homozygous calr mutation in primary myelofibrosis and its effect on disease phenotype a case report and review of the literature |
| url | http://dx.doi.org/10.1155/2019/1430170 |
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